{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:46:29Z","timestamp":1786977989631,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":7913,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[1994]]},"DOI":"10.1002\/humu.1380030306","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:10:49Z","timestamp":1118517049000},"page":"205-211","source":"Crossref","is-referenced-by-count":63,"title":["Mutations in PAX3 associated with waardenburg syndrome type I"],"prefix":"10.1155","volume":"3","author":[{"given":"Clinton T.","family":"Baldwin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina R.","family":"Lipsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher F.","family":"Hoth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tirza","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilfred","family":"Mamuya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aubrey","family":"Milunsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"10.1002\/humu.1380030306-BIB1","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1038\/355637a0","volume":"355","author":"Baldwin","year":"1992","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380030306-BIB2","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1016\/0092-8674(88)90039-6","volume":"55","author":"Balling","year":"1988","journal-title":"Cell"},{"key":"10.1002\/humu.1380030306-BIB3","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/ng0293-113","volume":"3","author":"Barr","year":"1993","journal-title":"Nature Genet"},{"key":"10.1002\/humu.1380030306-BIB4","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1016\/0092-8674(86)90818-4","volume":"47","author":"Bopp","year":"1986","journal-title":"Cell"},{"key":"10.1002\/humu.1380030306-BIB5","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1002\/j.1460-2075.1989.tb03490.x","volume":"8","author":"Burri","year":"1989","journal-title":"EMBO J"},{"key":"10.1002\/humu.1380030306-BIB6","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/0092-8674(91)90434-Z","volume":"66","author":"Chalepakis","year":"1991","journal-title":"Cell"},{"key":"10.1002\/humu.1380030306-BIB7","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1038\/362065a0","volume":"362","author":"Dressier","year":"1993","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380030306-BIB8","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/0888-7543(91)90488-Z","volume":"10","author":"Epstein","year":"1991a","journal-title":"Genomics"},{"key":"10.1002\/humu.1380030306-BIB9","first-page":"767","volume":"67","author":"Epstein","year":"1991b","journal-title":"Cull"},{"key":"10.1002\/humu.1380030306-BIB10","first-page":"902","volume":"50","author":"Farrer","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380030306-BIB11","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1002\/j.1460-2075.1991.tb08054.x","volume":"10","author":"Goulding","year":"1991","journal-title":"EMBO J"},{"key":"10.1002\/humu.1380030306-BIB12","first-page":"468","volume":"29","author":"Hageman","year":"1977","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380030306-BIB13","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/354522a0","volume":"354","author":"Hill","year":"1991","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380030306-BIB14","first-page":"455","volume":"52","author":"Hoth","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380030306-BIB15","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/ajmg.1320330419","volume":"33","author":"Ishikiriyama","year":"1989","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.1380030306-BIB16","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ng0892-328","volume":"1","author":"Jordan","year":"1992","journal-title":"Nature Genet"},{"key":"10.1002\/humu.1380030306-BIB17","volume-title":"Mendelian Inheritance in Man","author":"McKusick","year":"1988","unstructured":"(1988) Mendelian Inheritance in Man, 8th ed. Baltimore, MD: The Johns Hopkins Univ. Press."},{"key":"10.1002\/humu.1380030306-BIB18","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1093\/hmg\/1.4.243","volume":"1","author":"Morell","year":"1992","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380030306-BIB19","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1126\/science.239.4839.487","volume":"239","author":"Saiki","year":"1988","journal-title":"Science"},{"key":"10.1002\/humu.1380030306-BIB20","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"1989","unstructured":"(1989) Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press."},{"key":"10.1002\/humu.1380030306-BIB21","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/ng0493-292","volume":"3","author":"Stapleton","year":"1993","journal-title":"Nature Genet"},{"key":"10.1002\/humu.1380030306-BIB22","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/355635a0","volume":"355","author":"Tassabehji","year":"1992","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380030306-BIB23","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/ng0193-26","volume":"3","author":"Tassabehji","year":"1993","journal-title":"Nature Genet"},{"key":"10.1002\/humu.1380030306-BIB24","first-page":"195","volume":"3","author":"Waardenburg","year":"1951","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380030306-BIB25","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/0888-7543(91)90151-4","volume":"11","author":"Walther","year":"1991","journal-title":"Genomics"},{"key":"10.1002\/humu.1380030306-BIB26","first-page":"797","volume-title":"Principles and Practice of Medical Genetics","author":"Witkop","year":"1990","unstructured":"(1990) Abnormalities of pigmentation. In (eds): Principles and Practice of Medical Genetics, 2nd ed. New York: Churchhill Livingstone, pp 797-833."},{"key":"10.1002\/humu.1380030306-BIB27","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1159\/000133495","volume":"63","author":"Wu","year":"1993","journal-title":"Cytogenet Cell Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380030306","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380030306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:48:44Z","timestamp":1672314524000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380030306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380030306","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994]]}}}